ArticleJournal of human genetics2026
Age-dependent association of the METTL23 c.84+60delAT variant with normal-tension glaucoma.
Article in Journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
10 authors.
Funding
Abstract
Normal-tension glaucoma (NTG) is an age-related cause of irreversible vision loss, yet the contribution of genetic variants to susceptibility across the lifespan remains unclear. The splice-site variant METTL23 c.84+60delAT (delAT), which induces aberrant exon skipping, has been implicated in NTG. We evaluated the age-dependent genetic risk associated with delAT by integrating age-stratified carrier frequency analyses in population datasets with age-specific case control association analyses in 3843 individuals. In the gnomAD database, the frequency of delAT carriers declined sharply with age, decreasing approximately sixfold in individuals aged ≥40 years. Consistent with this finding, case-control analyses demonstrated increasing effect sizes with advancing age, with odds ratios of 1.84 in individuals aged ≥40 years and 2.59 in those ≥50 years (P = 0.039). These complementary analyses provide convergent evidence that delAT confers an age-dependent increase in NTG risk, underscoring the importance of incorporating age into genetic analyses of late-onset disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.